|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Besides the three known genes (RHO, RDS/Peripherin, NRL) involved in autosomal dominant retinitis pigmentosa (adRP), a fourth gene, RP1, has been recently identified.
|
11864893 |
2002 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Given the sequence homologies that exist between the murine rds-peripherin and the human RDS-peripherin gene, this disease model, the first to be generated for peripherin-based RP using gene targeting techniques, should in principle be of value in the work-up in mice of therapeutics capable of targeting transcripts derived from the human gene.
|
11978760 |
2002 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To address mutational heterogeneity in rhodopsin and peripherin-linked adRP using mutation-independent ribozyme-based therapeutic approaches.
|
10967039 |
2000 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Rhodopsin and peripherin/Rds have been estimated to account for 20-31% and less than 5% of ADRP, respectively.
|
9475085 |
1998 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
To the best of our knowledge, no peripherin/RDS gene analysis has been previously reported in ADRP in France.
|
9673478 |
1998 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant retinitis pigmentosa (adRP) has thus far been associated with eight distinct loci, including the rhodopsin and peripherin/RDS genes as well as unidentified genes on chromosomes 7p, 7q, 8q, 17p, 17q, and 19q.
|
8723719 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the peripherin/retinal degeneration slow (RDS) gene have been reported in autosomal dominant retinitis pigmentosa and variable forms of pattern dystrophy of the retinal pigment epithelium.
|
8823597 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Linkage to the UCLA-RP09 disease gene was excluded for all eight candidate genes analyzed, including rhodopsin (RP4) and peripherin/RDS (RP7), for the four adRP loci RP1, RP9, RP10 and RP11, as well as for 17 phenotypic markers.
|
8571961 |
1996 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In members of this family, both autosomal dominant RP and pattern dystrophy were associated with a Pro216Ser mutation in the peripherin/RDS gene.
|
7754251 |
1995 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Currently, the most comprehensive statement could be that RDS/peripherin mutations are associated either with typical RP or with various forms of flecked retinal disease.
|
7880786 |
1995 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied the ocular findings in eight members of a Japanese family with autosomal dominant retinitis pigmentosa and cytosine-to-adenine transversion at the third nucleotide in codon 244 of the peripherin/RDS gene.
|
7993211 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Clinical features of a previously undescribed codon 216 (proline to serine) mutation in the peripherin/retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.
|
8058286 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Ocular findings associated with a 3 base pair deletion in the peripherin-RDS gene in autosomal dominant retinitis pigmentosa.
|
7848979 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, mutations in the retinal degeneration slow (rds) gene which codes for peripherin-rds have been implicated as a cause of autosomal dominant retinitis pigmentosa.
|
8302543 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa.
|
8154871 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results, together with the observation that a recessive nonsense mutation in the Drosophila opsin gene causes photoreceptor degeneration, prompted an extensive search for the alterations in the human rhodopsin and peripherin/RDS genes in families with autosomal dominant retinitis pigmentosa.
|
7747760 |
1994 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have screened for possible disease-causing mutations in the peripherin/retinal degeneration slow (RDS) gene in 13 Japanese families with autosomal dominant retinitis pigmentosa (ADRP).
|
8244346 |
1993 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant retinitis pigmentosa (adRP) is known to result from mutations in two different retinal genes--rhodopsin and peripherin--while a third locus has been implicated by linkage data.
|
8513323 |
1993 |
|
Autosomal dominant retinitis pigmentosa
|
0.100 |
Biomarker
|
disease |
BEFREE |
These data provide direct evidence for an additional autosomal dominant RP locus and strongly implicate the human equivalent of the mouse retinal degeneration slow (rds) gene, peripherin-rds, as a candidate for autosomal dominant retinitis pigmentosa.
|
1783395 |
1991 |